Results 11 to 20 of about 21,946 (228)

The Association between Serum Biochemical Markers and Early Amniocentesis in Diagnosing Chromosomal Anomalies: A Cross-Sectional Study in Southern Iran, 2021-2022 [PDF]

open access: yesIranian Journal of Medical Sciences
Background: Efforts to improve prenatal diagnosis of Down syndrome have been made, with amniocentesis representing an invasive procedure, and maternal serum biochemical markers are among the non-invasive options.
Maryam Kasraeian   +7 more
doaj   +2 more sources

Analysis of Amniocentesis Results in a Tertiary Care Center: A Retrospective Cohort Study [PDF]

open access: yesForbes Tıp Dergisi
Objective: To investigate the results of patients who underwent amniocentesis. Methods: Information about patients who underwent amniocentesis between May 2021 and May 2022 at the perinatology department of training and research hospital was obtained ...
Raziye TORUN   +7 more
doaj   +3 more sources

Mosaic Trisomy 9 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 9. Materials, Methods and Results: A 35-year-old woman, gravida 3, para 1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age ...
Chih-Ping Chen   +10 more
doaj   +2 more sources

Accuracy of non-invasive prenatal screening compared with amniocentesis: A retrospective study [PDF]

open access: yesInternational Journal of Reproductive BioMedicine
Background: One significant concern during pregnancy is the possibility of chromosomal malformations. While prenatal screenings are intended to reassure parents about the health of their unborn child, how reliable are these results when deemed ...
Elham Ghadirkhomi, Arezu Norouzi
doaj   +2 more sources

Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication [PDF]

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 11, November 2026.
Incidental molecular diagnosis of Neurofibromatosis Type 1 when prenatal chromosome microarray detected a duplication encompassing exons 2–36 of the NF1 gene. Pathogenicity was confirmed by RNA analysis. This case identifies a novel pathogenic NF1 duplication and highlights the importance of clinical genetics referral, pre‐test counseling, and informed
Rhiannon Sandow, Gunjan Garg
wiley   +2 more sources

Intra-uterine fetal demise caused by amniotic band syndrome after standard amniocentesis [PDF]

open access: yes, 2000
The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal feta I development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II
Bauerfeind, I.   +4 more
core   +1 more source

Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a pregnancy with a favorable outcome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis with a favorable outcome. Case Report: A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen   +7 more
doaj   +1 more source

Mosaic isochromosome 20q at amniocentesis: Prenatal diagnosis, genetic counseling and literature review

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis of mosaic isochromosome 20q [i(20q)] at amniocentesis, and we review the literature. Case report: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen   +6 more
doaj   +1 more source

The Effect of Education on Perceived Stress and Anxiety in High Risk Pregnant Women Awaiting for Amniocentesis: a Quasi-experimental Study [PDF]

open access: yesJournal of Midwifery & Reproductive Health, 2023
Background & aim: Amniocentesis is the most common invasive method used for diagnosis of genetic disorders. Studies showed that women with insufficient information about amniocentesis have high level of anxiety.
Jamileh Malakouti   +2 more
doaj   +1 more source

Procedure-related risk of miscarriage following chorionic villus sampling and amniocentesis [PDF]

open access: yes, 2019
Objective: The objective of our study was to estimate the procedure-related risks of miscarriage following CVS and amniocentesis in a large unselected screened and to determine whether these risks are consistent with those reported in systematic reviews ...
Geris, S.   +4 more
core   +1 more source

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